ABSTRACT
Objetivo Realizar una descripción de la frecuencia de patologías genéticas en el servicio de hospitalización pediátrica de un hospital de segundo nivel de atención. Métodos Revisión completa de los registros del Departamento de Estadística del hospital en el año 2005. El estudio se realizo en el pueblo de Ubaté durante el año 2006. Resultados Cerca del 25 por ciento de las hospitalizaciones, se originó en enfermedades complejas, incluyendo enfermedades multifactoriales y malformaciones congénitas, sin embargo, el estudio etiológico y la valoración por el genetista se llevan a cabo en pocas ocasiones. Conclusiones El hospital de atención primaria debe ser un centro de referencia de mayor relevancia para la detección de patologías de causa genética en la población pediátrica, se requieren nuevos mecanismos para poner en práctica este propósito, con el fin de permitir a los pacientes acceso al genetista y llevar a cabo un diagnóstico etiológico y asesoría genética adecuados.
Objective Describing genetic disease frequency in a second-level hospital's in-patient paediatric service Methods The hospital's statistical department's records for 2005 were comprehensively reviewed; the study was carried out in the town of Ubaté during 2006. Results Complex diseases led to nearly 25 percent of all hospitalisations, including multifactor diseases and congenital malformations. However, an aetiological study and/or geneticist consultation or referral took place on a few occasions. Conclusions Primary care hospitals should become more relevant reference centres for detecting genetic diseases amongst the paediatric population. New mechanisms are needed for implementing this to allow patients access to a geneticist and for an aetiological diagnosis to be made and providing suitable genetic counselling.
Subject(s)
Adolescent , Child , Child, Preschool , Female , Humans , Infant , Male , Genetic Diseases, Inborn/epidemiology , Hospitalization , ColombiaABSTRACT
Effects of inbreeding have been studied on diverse traits namely mortality, selection intensity and anthropometric traits in socio-economically divergent castes with different inbreeding levels taking into consideration the extent of marital migration and assortative marriage by profession in these populations. Mala, Madiga of the scheduled castes and Reddy, Vvsya and Maheshwari of the forward castes constituted the sample populations. Analysis of inbreeding effects revealed low mortality load, high selection intensity and inbreeding elevation of anthropometric traits in the forward castes. Wide differences in parameters of populations structure such as inbreeding, marital migration, assortative marriage by profession and gene-environment interactions could be causing differences in homozygosities of deleterious/ ill adapted genes in these castes leading to the results observed.